Canonical Allele Identifier: CA2573150813

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1454160
• ClinVar RCV Id: RCV001941729
• dbSNP Id: rs2141272535

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48468100dup , CM000677.2:g.48468100dup	GRCh38
NC_000015.9:g.48760297dup , CM000677.1:g.48760297dup	GRCh37
NC_000015.8:g.46547589dup	NCBI36
NG_008805.2:g.182689dup , LRG_778:g.182689dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4585dup	ENSP00000453958.2:p.Thr1529AsnfsTer24
ENST00000674301.2:c.4585dup	ENSP00000501333.2:p.Thr1529AsnfsTer24
ENST00000684448.1:n.3259dup
ENST00000316623.10:c.4585dup MANE Select	ENSP00000325527.5:p.Thr1529AsnfsTer24
ENST00000316623.9:c.4585dup	ENSP00000325527.5:p.Thr1529AsnfsTer24
ENST00000537463.6:c.*348dup	ENSP00000440294.2:n.*348dup
NM_000138.4:c.4585dup , LRG_778t1:c.4585dup	NP_000129.3:p.Thr1529AsnfsTer24
NM_000138.5:c.4585dup MANE Select	NP_000129.3:p.Thr1529AsnfsTer24